# Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis

**Authors:** Gabriela A. Martínez-Nava, Laura Keren Urbina-Jara, Saúl Lira-Albarrán, Henry L. Gómez, Erika Ruiz-García, María Tereza Nieto-Coronel, Rocio Ortiz-Lopez, Kenia Nadiezhda Martínez Villalba, Mariana Muñoz-Sánchez, Dione Aguilar, Liliana Gómez-Flores-Ramos, Sara Aileen Cabrera-Nieto, Alejandro Mohar, Marlid Cruz-Ramos

PMC · DOI: 10.3390/diagnostics14030287 · Diagnostics · 2024-01-29

## TL;DR

This study reviews somatic mutations in breast cancer among Latin American women to better understand tumor biology and improve treatment options.

## Contribution

The study provides a systematic review and meta-analysis of somatic mutations in Latin American breast cancer patients, a population underrepresented in clinical research.

## Key findings

- TP53 and PIK3CA are the most studied mutations, with PIK3CA's H1047R being the most common.
- Functional analysis revealed biological processes and pathways relevant to tumor biology and potential therapies.
- The study highlights the importance of targeted therapies and lifestyle strategies for improved clinical outcomes.

## Abstract

(1) Background: Somatic mutations may be connected to the exposome, potentially playing a role in breast cancer’s development and clinical outcomes. There needs to be information regarding Latin American women specifically, as they are underrepresented in clinical trials and have limited access to somatic analysis in their countries. This study aims to systematically investigate somatic mutations in breast cancer patients from Latin America to gain a better understanding of tumor biology in the region. (2) Methods: We realize a systematic review of studies on breast cancer in 21 Latin American countries using various databases such as PubMed, Google Scholar, Web of Science, RedAlyc, Dianlet, and Biblioteca Virtual en Salud. Of 392 articles that fit the criteria, 10 studies have clinical data which can be used to create a database containing clinical and genetic information. We compared mutation frequencies across different breast cancer subtypes using statistical analyses and meta-analyses of proportions. Furthermore, we identified overexpressed biological processes and canonical pathways through functional enrichment analysis. (3) Results: 342 mutations were found in six Latin American countries, with the TP53 and PIK3CA genes being the most studied mutations. The most common PIK3CA mutation was H1047R. Functional analysis provided insights into tumor biology and potential therapies. (4) Conclusion: evaluating specific somatic mutations in the Latin American population is crucial for understanding tumor biology and determining appropriate treatment options. Combining targeted therapies may improve clinical outcomes in breast cancer. Moreover, implementing healthy lifestyle strategies in Latin America could enhance therapy effectiveness and clinical outcomes.

## Linked entities

- **Genes:** TP53 (tumor protein p53) [NCBI Gene 7157], PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) [NCBI Gene 5290]
- **Diseases:** breast cancer (MONDO:0004989)

## Full-text entities

- **Genes:** PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) [NCBI Gene 5290] {aka CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}
- **Diseases:** tumor (MESH:D009369), Breast Cancer (MESH:D001943)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** H1047R

## Full text

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## Figures

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## References

72 references — full list in the complete paper: https://tomesphere.com/paper/PMC10855727/full.md

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Source: https://tomesphere.com/paper/PMC10855727